Bonnie A Sklar, Phattrawan Pisuchpen, Mor Bareket, Tatyana Milman, Ralph C Eagle, Jade Minor, Rebecca Procopio, Jenina Capasso, Alex V Levin, Kristin Hammersmith
PURPOSE: The aim of this study was to report a novel PRDM5 pathologic variant and ophthalmic findings in a family with 3 children diagnosed with brittle cornea syndrome (BCS). Histopathologic findings and surgical outcome of a child with BCS who underwent full-thickness corneal transplant are described. METHODS: This is an observational case report of a nonconsanguineous Laotian family with 3 siblings diagnosed with BCS. Data collected included visual acuity, cycloplegic refraction, slit-lamp biomicroscopy, dilated fundus examination, corneal pachymetry, corneal topography, and general medical findings...
September 15, 2023: Cornea